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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 15-75349215-GC-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=75349215&ref=GC&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 75349215,
"ref": "GC",
"alt": "G",
"effect": "frameshift_variant",
"transcript": "NM_001256552.1",
"consequences": [
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEIL1",
"gene_hgnc_id": 18448,
"hgvs_c": "c.314delC",
"hgvs_p": "p.Pro105fs",
"transcript": "NM_024608.4",
"protein_id": "NP_078884.2",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 390,
"cds_start": 314,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000355059.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024608.4"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEIL1",
"gene_hgnc_id": 18448,
"hgvs_c": "c.314delC",
"hgvs_p": "p.Pro105fs",
"transcript": "ENST00000355059.9",
"protein_id": "ENSP00000347170.4",
"transcript_support_level": 2,
"aa_start": 105,
"aa_end": null,
"aa_length": 390,
"cds_start": 314,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024608.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355059.9"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEIL1",
"gene_hgnc_id": 18448,
"hgvs_c": "c.314delC",
"hgvs_p": "p.Pro105fs",
"transcript": "ENST00000569035.5",
"protein_id": "ENSP00000455730.1",
"transcript_support_level": 1,
"aa_start": 105,
"aa_end": null,
"aa_length": 390,
"cds_start": 314,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000569035.5"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEIL1",
"gene_hgnc_id": 18448,
"hgvs_c": "c.572delC",
"hgvs_p": "p.Pro191fs",
"transcript": "NM_001256552.1",
"protein_id": "NP_001243481.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 476,
"cds_start": 572,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256552.1"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEIL1",
"gene_hgnc_id": 18448,
"hgvs_c": "c.314delC",
"hgvs_p": "p.Pro105fs",
"transcript": "ENST00000866915.1",
"protein_id": "ENSP00000536974.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 424,
"cds_start": 314,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866915.1"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEIL1",
"gene_hgnc_id": 18448,
"hgvs_c": "c.314delC",
"hgvs_p": "p.Pro105fs",
"transcript": "ENST00000866924.1",
"protein_id": "ENSP00000536983.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 424,
"cds_start": 314,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866924.1"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEIL1",
"gene_hgnc_id": 18448,
"hgvs_c": "c.314delC",
"hgvs_p": "p.Pro105fs",
"transcript": "ENST00000866926.1",
"protein_id": "ENSP00000536985.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 424,
"cds_start": 314,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866926.1"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEIL1",
"gene_hgnc_id": 18448,
"hgvs_c": "c.314delC",
"hgvs_p": "p.Pro105fs",
"transcript": "ENST00000954650.1",
"protein_id": "ENSP00000624709.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 424,
"cds_start": 314,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954650.1"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEIL1",
"gene_hgnc_id": 18448,
"hgvs_c": "c.314delC",
"hgvs_p": "p.Pro105fs",
"transcript": "ENST00000954652.1",
"protein_id": "ENSP00000624711.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 424,
"cds_start": 314,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954652.1"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEIL1",
"gene_hgnc_id": 18448,
"hgvs_c": "c.314delC",
"hgvs_p": "p.Pro105fs",
"transcript": "ENST00000954655.1",
"protein_id": "ENSP00000624714.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 424,
"cds_start": 314,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954655.1"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEIL1",
"gene_hgnc_id": 18448,
"hgvs_c": "c.314delC",
"hgvs_p": "p.Pro105fs",
"transcript": "ENST00000866918.1",
"protein_id": "ENSP00000536977.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 407,
"cds_start": 314,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866918.1"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEIL1",
"gene_hgnc_id": 18448,
"hgvs_c": "c.314delC",
"hgvs_p": "p.Pro105fs",
"transcript": "ENST00000954651.1",
"protein_id": "ENSP00000624710.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 395,
"cds_start": 314,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954651.1"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEIL1",
"gene_hgnc_id": 18448,
"hgvs_c": "c.314delC",
"hgvs_p": "p.Pro105fs",
"transcript": "ENST00000564784.5",
"protein_id": "ENSP00000457352.1",
"transcript_support_level": 2,
"aa_start": 105,
"aa_end": null,
"aa_length": 390,
"cds_start": 314,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000564784.5"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEIL1",
"gene_hgnc_id": 18448,
"hgvs_c": "c.314delC",
"hgvs_p": "p.Pro105fs",
"transcript": "ENST00000866913.1",
"protein_id": "ENSP00000536972.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 390,
"cds_start": 314,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866913.1"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEIL1",
"gene_hgnc_id": 18448,
"hgvs_c": "c.314delC",
"hgvs_p": "p.Pro105fs",
"transcript": "ENST00000866914.1",
"protein_id": "ENSP00000536973.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 390,
"cds_start": 314,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866914.1"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEIL1",
"gene_hgnc_id": 18448,
"hgvs_c": "c.314delC",
"hgvs_p": "p.Pro105fs",
"transcript": "ENST00000866919.1",
"protein_id": "ENSP00000536978.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 390,
"cds_start": 314,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866919.1"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEIL1",
"gene_hgnc_id": 18448,
"hgvs_c": "c.314delC",
"hgvs_p": "p.Pro105fs",
"transcript": "ENST00000866920.1",
"protein_id": "ENSP00000536979.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 390,
"cds_start": 314,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866920.1"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEIL1",
"gene_hgnc_id": 18448,
"hgvs_c": "c.314delC",
"hgvs_p": "p.Pro105fs",
"transcript": "ENST00000866921.1",
"protein_id": "ENSP00000536980.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 390,
"cds_start": 314,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866921.1"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEIL1",
"gene_hgnc_id": 18448,
"hgvs_c": "c.314delC",
"hgvs_p": "p.Pro105fs",
"transcript": "ENST00000866922.1",
"protein_id": "ENSP00000536981.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 390,
"cds_start": 314,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866922.1"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEIL1",
"gene_hgnc_id": 18448,
"hgvs_c": "c.314delC",
"hgvs_p": "p.Pro105fs",
"transcript": "ENST00000866925.1",
"protein_id": "ENSP00000536984.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 390,
"cds_start": 314,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866925.1"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEIL1",
"gene_hgnc_id": 18448,
"hgvs_c": "c.314delC",
"hgvs_p": "p.Pro105fs",
"transcript": "ENST00000866927.1",
"protein_id": "ENSP00000536986.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 390,
"cds_start": 314,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866927.1"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEIL1",
"gene_hgnc_id": 18448,
"hgvs_c": "c.314delC",
"hgvs_p": "p.Pro105fs",
"transcript": "ENST00000954654.1",
"protein_id": "ENSP00000624713.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 384,
"cds_start": 314,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954654.1"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
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"aa_end": null,
"aa_length": 38,
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"cds_end": null,
"cds_length": 119,
"cdna_start": null,
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"cdna_length": null,
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000568881.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEIL1",
"gene_hgnc_id": 18448,
"hgvs_c": "c.*245delC",
"hgvs_p": null,
"transcript": "ENST00000564500.5",
"protein_id": "ENSP00000456466.1",
"transcript_support_level": 2,
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"aa_end": null,
"aa_length": 21,
"cds_start": null,
"cds_end": null,
"cds_length": 66,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000564500.5"
}
],
"gene_symbol": "NEIL1",
"gene_hgnc_id": 18448,
"dbsnp": "rs556576971",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 0.976,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001256552.1",
"gene_symbol": "NEIL1",
"hgnc_id": 18448,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.572delC",
"hgvs_p": "p.Pro191fs"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}